rs377596075

This variant is located in the FSHR gene.

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ClinVar annotation

Uncertain Significance★★★☆
3 submitters1 publication

Ovarian dysgenesis 1; Ovarian hyperstimulation syndrome; Inborn genetic diseases; Ovarian dysgenesis 1;Ovarian hyperstimulation syndrome

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About FSHR

The protein encoded by this gene belongs to family 1 of G-protein coupled receptors. It is the receptor for follicle stimulating hormone and functions in gonad development. Mutations in this gene cause ovarian dysgenesis type 1, and also ovarian hyperstimulation syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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